What are variants of uncertain significance (VUS) in epilepsy genetic testing? How are they defined, and can those definitions change over time? Sharp Waves talks with Dr. Gemma Carvill as part of our genetic testing series.
RESOURCES
Standards for interpreting variants (American College of Medical Genetics)
EpiPred website for STXBP1 (developed by EpiMVP project - will be final by end of July)
Think Genetics paper – genetic testing in South Africa project
Link to Sharp Waves episode on genetic testing in LMICs
Sharp Waves episodes are meant for informational purposes only, and not as clinical or medical advice.
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